Aliases for CACNA1H Gene
- Calcium Channel, Voltage-Dependent, T Type, Alpha 1H Subunit 2 3
- Low-Voltage-Activated Calcium Channel Alpha1 3.2 Subunit 3 4
- Voltage-Gated Calcium Channel Subunit Alpha Cav3.2 3 4
- ECA6 3 6
- EIG6 3 6
- Calcium Channel, Voltage-Dependent, T Type, Alpha 1Hb Subunit 3
- Voltage Dependent T-Type Calcium Channel Alpha-1H Subunit 3
External Ids for CACNA1H Gene
This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]
GeneCards Summary for CACNA1H Gene
CACNA1H (Calcium Channel, Voltage-Dependent, T Type, Alpha 1H Subunit) is a Protein Coding gene. Diseases associated with CACNA1H include epilepsy, childhood absence 6 and childhood absence epilepsy. Among its related pathways are MAPK signaling pathway and L1CAM interactions. GO annotations related to this gene include scaffold protein binding and low voltage-gated calcium channel activity. An important paralog of this gene is CACNA1D.
UniProtKB/Swiss-Prot for CACNA1H Gene
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families. Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).